Canonical Allele Identifier: CA553085306
Gene: DSPP HGNC NCBI

Linked Data

dbSNP Id: rs1297167982
gnomAD v2: 4-88533347-GA-G
gnomAD v4: 4-87612195-GA-G
MyVariant Identifiers: chr4:g.88533348del (hg19) chr4:g.87612196del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612196del , CM000666.2:g.87612196del GRCh38
NC_000004.11:g.88533348del , CM000666.1:g.88533348del GRCh37
NC_000004.10:g.88752372del NCBI36
NG_011595.1:g.8668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.135+8del MANE Select ENSP00000498766.1:n.135+8del
ENST00000282478.7:c.135+8del ENSP00000282478.7:n.135+8del
ENST00000399271.5:c.135+8del ENSP00000382213.1:n.135+8del
NM_014208.3:c.135+8del MANE Select NP_055023.2:n.135+8del
Search 100 bp 5'
Search 100 bp 3'